Incidental Mutation 'R9469:R3hdm1'
| ID |
715323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm1
|
| Ensembl Gene |
ENSMUSG00000056211 |
| Gene Name |
R3H domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 128106921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187023]
[ENSMUST00000187900]
[ENSMUST00000188381]
[ENSMUST00000189317]
[ENSMUST00000190056]
|
| AlphaFold |
E9Q9Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036288
|
| SMART Domains |
Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
R3H
|
151 |
228 |
3.18e-22 |
SMART |
|
Pfam:SUZ
|
249 |
302 |
8.8e-15 |
PFAM |
|
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187023
|
| SMART Domains |
Protein: ENSMUSP00000139749
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
95 |
172 |
1.9e-24 |
SMART |
|
Pfam:SUZ
|
193 |
246 |
2.6e-11 |
PFAM |
|
low complexity region
|
335 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187900
|
| SMART Domains |
Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
R3H
|
151 |
228 |
3.18e-22 |
SMART |
|
Pfam:SUZ
|
249 |
302 |
2.7e-14 |
PFAM |
|
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188381
|
| SMART Domains |
Protein: ENSMUSP00000140538
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
R3H
|
107 |
184 |
3.18e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189317
|
| SMART Domains |
Protein: ENSMUSP00000140175
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
R3H
|
137 |
214 |
1.9e-24 |
SMART |
|
Pfam:SUZ
|
235 |
287 |
2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190056
|
| SMART Domains |
Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
299 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
T |
17: 57,183,283 (GRCm39) |
D8V |
probably benign |
Het |
| Ada |
T |
A |
2: 163,574,192 (GRCm39) |
M155L |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,988,225 (GRCm39) |
G3170R |
probably damaging |
Het |
| Alb |
G |
A |
5: 90,610,659 (GRCm39) |
D80N |
probably benign |
Het |
| Amph |
G |
T |
13: 19,270,769 (GRCm39) |
G126V |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,733,205 (GRCm39) |
M994L |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,028,668 (GRCm39) |
L933P |
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,191,292 (GRCm39) |
D546G |
possibly damaging |
Het |
| Bmpr2 |
A |
C |
1: 59,881,928 (GRCm39) |
M186L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,507,938 (GRCm39) |
I711V |
probably damaging |
Het |
| Cobll1 |
G |
A |
2: 64,966,774 (GRCm39) |
T128I |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,804 (GRCm39) |
W165R |
unknown |
Het |
| Cyp2j5 |
G |
A |
4: 96,517,731 (GRCm39) |
R494* |
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,321,896 (GRCm39) |
A3808V |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,421,146 (GRCm39) |
T3828S |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,400,947 (GRCm39) |
I150T |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,684,332 (GRCm39) |
I489N |
probably damaging |
Het |
| Fam24a |
C |
A |
7: 130,938,392 (GRCm39) |
T94K |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,301 (GRCm39) |
E423G |
possibly damaging |
Het |
| Gm8947 |
A |
G |
1: 151,069,063 (GRCm39) |
I299V |
unknown |
Het |
| Gpr161 |
A |
G |
1: 165,133,896 (GRCm39) |
I53V |
possibly damaging |
Het |
| Guca2b |
G |
A |
4: 119,515,817 (GRCm39) |
Q15* |
probably null |
Het |
| Hus1 |
A |
G |
11: 8,948,744 (GRCm39) |
V219A |
probably benign |
Het |
| Il5 |
T |
C |
11: 53,614,824 (GRCm39) |
W129R |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,201,843 (GRCm39) |
Y77C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,307,322 (GRCm39) |
L136P |
probably benign |
Het |
| Klhl2 |
G |
A |
8: 65,196,069 (GRCm39) |
A558V |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,199 (GRCm39) |
C613Y |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,335,369 (GRCm39) |
Y276C |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,856,068 (GRCm39) |
E119G |
probably damaging |
Het |
| Mrpl39 |
T |
G |
16: 84,517,170 (GRCm39) |
R316S |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,994,247 (GRCm39) |
D902G |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,368,122 (GRCm39) |
A482S |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 23,085,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,804,030 (GRCm39) |
Y555H |
probably damaging |
Het |
| Or12d12 |
T |
C |
17: 37,610,956 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4d10c |
G |
A |
19: 12,065,434 (GRCm39) |
H241Y |
probably benign |
Het |
| Or52l1 |
A |
T |
7: 104,829,967 (GRCm39) |
H199Q |
probably damaging |
Het |
| Or8k27 |
C |
A |
2: 86,275,787 (GRCm39) |
D180Y |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,288,959 (GRCm39) |
K175E |
possibly damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,343,827 (GRCm39) |
M39V |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,913,953 (GRCm39) |
D321N |
probably benign |
Het |
| Plxna4 |
G |
A |
6: 32,494,526 (GRCm39) |
P30L |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
| Ptpn2 |
T |
A |
18: 67,808,907 (GRCm39) |
H303L |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,977,069 (GRCm39) |
V106A |
probably damaging |
Het |
| Ripk2 |
T |
C |
4: 16,138,181 (GRCm39) |
D249G |
possibly damaging |
Het |
| Rnf169 |
A |
T |
7: 99,575,567 (GRCm39) |
S343T |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,769 (GRCm39) |
L671Q |
probably damaging |
Het |
| Scube3 |
C |
A |
17: 28,386,138 (GRCm39) |
S793* |
probably null |
Het |
| Sipa1l3 |
A |
T |
7: 29,028,481 (GRCm39) |
M1633K |
possibly damaging |
Het |
| Slc16a14 |
A |
T |
1: 84,900,612 (GRCm39) |
N124K |
probably benign |
Het |
| Smarcd2 |
G |
A |
11: 106,163,332 (GRCm39) |
A68V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,739,774 (GRCm39) |
E3391G |
possibly damaging |
Het |
| Spata32 |
T |
C |
11: 103,099,741 (GRCm39) |
M255V |
possibly damaging |
Het |
| Sstr5 |
T |
A |
17: 25,710,941 (GRCm39) |
Q96L |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,828 (GRCm39) |
I128T |
probably benign |
Het |
| Tfdp1 |
C |
T |
8: 13,422,965 (GRCm39) |
T290M |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,344,511 (GRCm39) |
H1459Y |
probably benign |
Het |
| Tmed4 |
T |
A |
11: 6,223,763 (GRCm39) |
Q171L |
probably benign |
Het |
| Tmem40 |
G |
A |
6: 115,719,321 (GRCm39) |
S48F |
possibly damaging |
Het |
| Tnfaip1 |
A |
G |
11: 78,419,075 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
G |
15: 75,539,742 (GRCm39) |
Y290H |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,577,585 (GRCm39) |
D165V |
probably damaging |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Ubac1 |
G |
A |
2: 25,897,763 (GRCm39) |
R286C |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,406,958 (GRCm39) |
E273G |
possibly damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,101 (GRCm39) |
S228N |
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,118 (GRCm39) |
V515E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,780,691 (GRCm39) |
L4011P |
|
Het |
| Ythdc2 |
T |
C |
18: 45,019,383 (GRCm39) |
F1384S |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,519 (GRCm39) |
Y275F |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,934,325 (GRCm39) |
K93E |
probably benign |
Het |
| Zfp980 |
G |
T |
4: 145,427,687 (GRCm39) |
G139W |
probably benign |
Het |
|
| Other mutations in R3hdm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:R3hdm1
|
APN |
1 |
128,164,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00799:R3hdm1
|
APN |
1 |
128,102,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:R3hdm1
|
APN |
1 |
128,163,369 (GRCm39) |
splice site |
probably benign |
|
|
IGL00885:R3hdm1
|
APN |
1 |
128,164,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00990:R3hdm1
|
APN |
1 |
128,089,933 (GRCm39) |
intron |
probably benign |
|
|
IGL01137:R3hdm1
|
APN |
1 |
128,109,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01323:R3hdm1
|
APN |
1 |
128,144,280 (GRCm39) |
missense |
probably benign |
|
|
IGL01461:R3hdm1
|
APN |
1 |
128,106,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:R3hdm1
|
APN |
1 |
128,114,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:R3hdm1
|
APN |
1 |
128,102,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01837:R3hdm1
|
APN |
1 |
128,114,497 (GRCm39) |
nonsense |
probably null |
|
|
IGL01934:R3hdm1
|
APN |
1 |
128,164,272 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02074:R3hdm1
|
APN |
1 |
128,096,775 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02532:R3hdm1
|
APN |
1 |
128,124,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02606:R3hdm1
|
APN |
1 |
128,118,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02851:R3hdm1
|
APN |
1 |
128,102,677 (GRCm39) |
splice site |
probably benign |
|
|
driven
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0023:R3hdm1
|
UTSW |
1 |
128,138,929 (GRCm39) |
splice site |
probably benign |
|
|
R0280:R3hdm1
|
UTSW |
1 |
128,090,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0482:R3hdm1
|
UTSW |
1 |
128,112,254 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0521:R3hdm1
|
UTSW |
1 |
128,121,440 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0578:R3hdm1
|
UTSW |
1 |
128,159,174 (GRCm39) |
nonsense |
probably null |
|
|
R0698:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:R3hdm1
|
UTSW |
1 |
128,121,333 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1026:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1319:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1320:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1511:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:R3hdm1
|
UTSW |
1 |
128,162,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:R3hdm1
|
UTSW |
1 |
128,096,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2140:R3hdm1
|
UTSW |
1 |
128,118,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2437:R3hdm1
|
UTSW |
1 |
128,114,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2447:R3hdm1
|
UTSW |
1 |
128,114,666 (GRCm39) |
intron |
probably benign |
|
|
R4564:R3hdm1
|
UTSW |
1 |
128,149,396 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4640:R3hdm1
|
UTSW |
1 |
128,102,975 (GRCm39) |
splice site |
probably benign |
|
|
R4649:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:R3hdm1
|
UTSW |
1 |
128,164,503 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5393:R3hdm1
|
UTSW |
1 |
128,159,084 (GRCm39) |
missense |
probably benign |
|
|
R5554:R3hdm1
|
UTSW |
1 |
128,164,409 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5979:R3hdm1
|
UTSW |
1 |
128,138,960 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6123:R3hdm1
|
UTSW |
1 |
128,096,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6185:R3hdm1
|
UTSW |
1 |
128,079,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6618:R3hdm1
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6636:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R6639:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R6756:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R7168:R3hdm1
|
UTSW |
1 |
128,144,232 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7210:R3hdm1
|
UTSW |
1 |
128,138,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7367:R3hdm1
|
UTSW |
1 |
128,081,129 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7536:R3hdm1
|
UTSW |
1 |
128,109,948 (GRCm39) |
splice site |
probably null |
|
|
R7896:R3hdm1
|
UTSW |
1 |
128,096,703 (GRCm39) |
splice site |
probably null |
|
|
R8391:R3hdm1
|
UTSW |
1 |
128,121,215 (GRCm39) |
missense |
|
|
|
R8486:R3hdm1
|
UTSW |
1 |
128,106,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8490:R3hdm1
|
UTSW |
1 |
128,162,864 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8947:R3hdm1
|
UTSW |
1 |
128,102,694 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8990:R3hdm1
|
UTSW |
1 |
128,106,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:R3hdm1
|
UTSW |
1 |
128,089,975 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9426:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:R3hdm1
|
UTSW |
1 |
128,095,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0020:R3hdm1
|
UTSW |
1 |
128,096,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTTGACAAAGATGATAGCCAGG -3'
(R):5'- CCTGTGGTCTACCTGTGTTCAG -3'
Sequencing Primer
(F):5'- AAGATGATAGCCAGGTAATTTTGAG -3'
(R):5'- GGTCTACCTGTGTTCAGTTTTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation